P81S (p.Pro81Ser) variant of APOH (Beta-2-glycoprotein 1)
P81S (p.Pro81Ser) in APOH (Beta-2-glycoprotein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- rs762150092
- ExAC rs762150092
- TOPMed rs762150092
- gnomAD rs762150092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.48
- CADD 24.40
- PolyPhen-2 0.42
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available